Canonical Allele Identifier: CA318767
Gene: SPTAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632274_128632282dup , CM000671.2:g.128632274_128632282dup GRCh38
NC_000009.11:g.131394553_131394561dup , CM000671.1:g.131394553_131394561dup GRCh37
NC_000009.10:g.130434374_130434382dup NCBI36
NG_027748.1:g.84717_84725dup
NG_034056.1:g.29570_29578dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6946_6954dup ENSP00000486547.2:p.Gly2318_Met2319insGlnLeuGly
ENST00000630866.2:c.6973_6981dup ENSP00000487444.1:p.Gly2327_Met2328insGlnLeuGly
ENST00000704202.1:c.6997_7005dup ENSP00000515764.1:p.Gly2335_Met2336insGlnLeuGly
ENST00000704203.1:c.6946_6954dup ENSP00000515765.1:p.Gly2318_Met2319insGlnLeuGly
ENST00000704204.1:c.6436_6444dup ENSP00000515766.1:p.Gly2148_Met2149insGlnLeuGly
ENST00000704206.1:c.4515_4523dup
ENST00000704207.1:c.2852_2860dup
ENST00000706487.1:c.6910_6918dup ENSP00000516412.1:p.Gly2306_Met2307insGlnLeuGly
ENST00000372739.7:c.6910_6918dup MANE Select ENSP00000361824.4:p.Gly2306_Met2307insGlnLeuGly
ENST00000636010.1:n.634_642dup
ENST00000358161.9:c.6835_6843dup ENSP00000350882.6:p.Gly2281_Met2282insGlnLeuGly
ENST00000372731.8:c.6895_6903dup ENSP00000361816.4:p.Gly2301_Met2302insGlnLeuGly
ENST00000372739.5:c.6910_6918dup ENSP00000361824.3:p.Gly2306_Met2307insGlnLeuGly
ENST00000625980.2:n.864_872dup
ENST00000630763.1:n.667_675dup
ENST00000630804.2:c.6850_6858dup ENSP00000486308.1:p.Gly2286_Met2287insGlnLeuGly
ENST00000630866.1:c.6973_6981dup ENSP00000487444.1:p.Gly2327_Met2328insGlnLeuGly
NM_001130438.2:c.6910_6918dup NP_001123910.1:p.Gly2306_Met2307insGlnLeuGly
NM_001195532.1:c.6835_6843dup NP_001182461.1:p.Gly2281_Met2282insGlnLeuGly
NM_003127.3:c.6895_6903dup NP_003118.2:p.Gly2301_Met2302insGlnLeuGly
XM_006717245.1:c.7009_7017dup XP_006717308.1:p.Gly2339_Met2340insGlnLeuGly
XM_006717246.1:c.6994_7002dup XP_006717309.1:p.Gly2334_Met2335insGlnLeuGly
XM_006717247.1:c.6949_6957dup XP_006717310.1:p.Gly2319_Met2320insGlnLeuGly
XM_006717248.1:c.6946_6954dup XP_006717311.1:p.Gly2318_Met2319insGlnLeuGly
XM_006717249.1:c.6931_6939dup XP_006717312.1:p.Gly2313_Met2314insGlnLeuGly
XM_006717250.1:c.6928_6936dup XP_006717313.1:p.Gly2312_Met2313insGlnLeuGly
XM_006717251.1:c.6913_6921dup XP_006717314.1:p.Gly2307_Met2308insGlnLeuGly
XM_006717252.1:c.6886_6894dup XP_006717315.1:p.Gly2298_Met2299insGlnLeuGly
XM_006717253.1:c.6871_6879dup XP_006717316.1:p.Gly2293_Met2294insGlnLeuGly
XM_006717254.1:c.6973_6981dup XP_006717317.1:p.Gly2327_Met2328insGlnLeuGly
NM_001363759.1:c.6973_6981dup NP_001350688.1:p.Gly2327_Met2328insGlnLeuGly
NM_001363765.1:c.6850_6858dup NP_001350694.1:p.Gly2286_Met2287insGlnLeuGly
XM_006717247.2:c.6949_6957dup XP_006717310.1:p.Gly2319_Met2320insGlnLeuGly
XM_006717248.2:c.6946_6954dup XP_006717311.1:p.Gly2318_Met2319insGlnLeuGly
XM_006717251.2:c.6913_6921dup XP_006717314.1:p.Gly2307_Met2308insGlnLeuGly
XM_006717252.3:c.6886_6894dup XP_006717315.1:p.Gly2298_Met2299insGlnLeuGly
XM_017015059.1:c.6892_6900dup XP_016870548.1:p.Gly2300_Met2301insGlnLeuGly
XM_017015060.1:c.6868_6876dup XP_016870549.1:p.Gly2292_Met2293insGlnLeuGly
NM_001130438.3:c.6910_6918dup MANE Select NP_001123910.1:p.Gly2306_Met2307insGlnLeuGly
NM_001195532.2:c.6835_6843dup NP_001182461.1:p.Gly2281_Met2282insGlnLeuGly
NM_001363759.2:c.6973_6981dup NP_001350688.1:p.Gly2327_Met2328insGlnLeuGly
NM_001363765.2:c.6850_6858dup NP_001350694.1:p.Gly2286_Met2287insGlnLeuGly
NM_001375310.1:c.6997_7005dup NP_001362239.1:p.Gly2335_Met2336insGlnLeuGly
NM_001375311.2:c.6910_6918dup NP_001362240.1:p.Gly2306_Met2307insGlnLeuGly
NM_001375312.2:c.6946_6954dup NP_001362241.2:p.Gly2318_Met2319insGlnLeuGly
NM_001375313.1:c.6892_6900dup NP_001362242.1:p.Gly2300_Met2301insGlnLeuGly
NM_001375314.2:c.6850_6858dup NP_001362243.1:p.Gly2286_Met2287insGlnLeuGly
NM_001375318.1:c.7009_7017dup NP_001362247.1:p.Gly2339_Met2340insGlnLeuGly
NM_003127.4:c.6895_6903dup NP_003118.2:p.Gly2301_Met2302insGlnLeuGly